ArticleBrain and behavior2020
A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.
Article in Brain and behavior, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 3 citations in OpenAlex.
- TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.CNS neuroscience & therapeutics · 2022Article
- Case Report: Early-Onset Charcot-Marie-Tooth 2N With Reversible White Matter Lesions Repeatedly Mimicked Stroke or Encephalitis.Frontiers in pediatrics · 2022Article
- A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.Brain and behavior · 2020Article
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4 authors at 2 institutions in 1 country.
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Abstract
introductionMutations within TFG gene were recently reported to cause Charcot-Marie-Tooth disease 2 (CMT2). However, only few pedigrees were documented so far. Here, we reported a Chinese CMT2 pedigree with 8 affected cases and a novel TFG mutation.
methodsClinical evaluation and electrophysiological study were performed in all the affected individuals. Whole-exome sequencing was conducted, followed by the Sanger sequencing and co-segregation analysis to verify the variants.
resultsAll cases presented with a phenotype of CMT2, including slowly progressive symmetrical muscle atrophy and weakness predominantly in the distal limbs. Sensory loss in the distal limbs was present in the proband and his father. Age at onset ranged from 37 to 44 years, and was younger in male cases, compared with female cases. Nerve conduction study revealed normal motor nerve conduction velocity but decreased compound muscle action potential. Electromyography test revealed fibrillation potential and positive sharp waves. The creatine kinase activity was increased in all cases. After genetic investigations, we identified a novel TFG c.793C>G (p.Pro265Ala) mutation in the family. This mutation alters the conserved amino acid residue and is absent in 1000G, ExAC, dbSNP, EP6500, and 200 in-house controls. It co-segregated with the disease in the family.
conclusionsOur report provided additional evidence that the heterozygous TFG mutations were associated with CMT2.
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